Incidental Mutation 'R8348:Ogdh'
ID |
645376 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ogdh
|
Ensembl Gene |
ENSMUSG00000020456 |
Gene Name |
oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide) |
Synonyms |
alpha-ketoglutarate dehydrogenase, 2210403E04Rik, 2210412K19Rik, d1401 |
MMRRC Submission |
067732-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R8348 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
6241633-6306642 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 6292619 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Serine
at position 455
(N455S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000091041
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003461]
[ENSMUST00000081894]
[ENSMUST00000093350]
[ENSMUST00000101554]
|
AlphaFold |
Q60597 |
PDB Structure |
Structure of the m67 high-affinity mutant of the 2C TCR in complex with Ld/QL9 [X-RAY DIFFRACTION]
42F3 QL9/H2-Ld complex [X-RAY DIFFRACTION]
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000003461
AA Change: N444S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000003461 Gene: ENSMUSG00000020456 AA Change: N444S
Domain | Start | End | E-Value | Type |
Blast:Transket_pyr
|
131 |
199 |
8e-13 |
BLAST |
Pfam:E1_dh
|
256 |
582 |
1.4e-95 |
PFAM |
Transket_pyr
|
651 |
865 |
3.44e-50 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000081894
AA Change: N440S
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000080569 Gene: ENSMUSG00000020456 AA Change: N440S
Domain | Start | End | E-Value | Type |
Pfam:E1_dh
|
252 |
578 |
1e-96 |
PFAM |
Transket_pyr
|
647 |
861 |
3.44e-50 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000093350
AA Change: N455S
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000091041 Gene: ENSMUSG00000020456 AA Change: N455S
Domain | Start | End | E-Value | Type |
Pfam:2-oxogl_dehyd_N
|
47 |
87 |
6.6e-21 |
PFAM |
Pfam:E1_dh
|
267 |
593 |
1.1e-101 |
PFAM |
Transket_pyr
|
662 |
876 |
3.44e-50 |
SMART |
Pfam:OxoGdeHyase_C
|
880 |
1025 |
8.7e-58 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000101554
AA Change: N444S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000099090 Gene: ENSMUSG00000020456 AA Change: N444S
Domain | Start | End | E-Value | Type |
Blast:Transket_pyr
|
131 |
199 |
8e-13 |
BLAST |
Pfam:E1_dh
|
256 |
582 |
1.4e-95 |
PFAM |
Transket_pyr
|
651 |
865 |
3.44e-50 |
SMART |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes one subunit of the 2-oxoglutarate dehydrogenase complex. This complex catalyzes the overall conversion of 2-oxoglutarate (alpha-ketoglutarate) to succinyl-CoA and CO(2) during the Krebs cycle. The protein is located in the mitochondrial matrix and uses thiamine pyrophosphate as a cofactor. A congenital deficiency in 2-oxoglutarate dehydrogenase activity is believed to lead to hypotonia, metabolic acidosis, and hyperlactatemia. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Sep 2009]
|
Allele List at MGI |
All alleles(34) : Gene trapped(34) |
Other mutations in this stock |
Total: 63 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4933430I17Rik |
T |
C |
4: 62,461,022 (GRCm39) |
|
probably null |
Het |
Adamts6 |
T |
A |
13: 104,616,027 (GRCm39) |
C1030S |
probably damaging |
Het |
Adamtsl3 |
C |
A |
7: 82,253,007 (GRCm39) |
T1527K |
possibly damaging |
Het |
Akap9 |
G |
A |
5: 3,998,897 (GRCm39) |
|
probably null |
Het |
Ankle2 |
C |
A |
5: 110,389,909 (GRCm39) |
P457T |
possibly damaging |
Het |
Ankrd7 |
A |
G |
6: 18,868,007 (GRCm39) |
N91S |
probably damaging |
Het |
Ascc3 |
C |
A |
10: 50,494,173 (GRCm39) |
Q203K |
probably benign |
Het |
Baz2b |
A |
T |
2: 59,742,137 (GRCm39) |
D61E |
|
Het |
Bmpr1a |
T |
A |
14: 34,136,759 (GRCm39) |
K477N |
probably benign |
Het |
Cacna1d |
T |
C |
14: 29,824,364 (GRCm39) |
I1040V |
probably damaging |
Het |
Castor2 |
T |
C |
5: 134,166,955 (GRCm39) |
F304L |
possibly damaging |
Het |
Cdkn2a |
C |
A |
4: 89,200,291 (GRCm39) |
V20L |
possibly damaging |
Het |
Chd5 |
A |
G |
4: 152,445,173 (GRCm39) |
S385G |
probably damaging |
Het |
Cntrob |
A |
G |
11: 69,190,679 (GRCm39) |
F46L |
unknown |
Het |
Cth |
T |
C |
3: 157,630,657 (GRCm39) |
D4G |
probably benign |
Het |
Cyld |
C |
T |
8: 89,456,197 (GRCm39) |
H416Y |
probably damaging |
Het |
Dennd6a |
C |
A |
14: 26,328,098 (GRCm39) |
H264Q |
possibly damaging |
Het |
Dnah1 |
T |
C |
14: 31,015,682 (GRCm39) |
Y1672C |
probably damaging |
Het |
Dnah8 |
A |
G |
17: 30,892,814 (GRCm39) |
I800V |
probably benign |
Het |
Esrp2 |
A |
G |
8: 106,858,853 (GRCm39) |
Y595H |
probably damaging |
Het |
F12 |
T |
A |
13: 55,566,301 (GRCm39) |
Y497F |
probably benign |
Het |
Fggy |
A |
G |
4: 95,732,427 (GRCm39) |
T473A |
probably benign |
Het |
Garre1 |
A |
T |
7: 33,984,569 (GRCm39) |
L18Q |
probably damaging |
Het |
Gm21103 |
C |
A |
14: 17,482,861 (GRCm39) |
R180L |
probably benign |
Het |
Gstt2 |
C |
A |
10: 75,668,526 (GRCm39) |
R107L |
probably damaging |
Het |
Hectd4 |
A |
T |
5: 121,358,319 (GRCm39) |
|
probably benign |
Het |
Helb |
A |
G |
10: 119,938,791 (GRCm39) |
F561S |
probably damaging |
Het |
Ints2 |
T |
C |
11: 86,146,249 (GRCm39) |
T120A |
probably benign |
Het |
Kdm5d |
G |
A |
Y: 914,056 (GRCm39) |
R331H |
probably benign |
Het |
Krt6b |
A |
G |
15: 101,586,455 (GRCm39) |
Y345H |
probably damaging |
Het |
Limch1 |
A |
G |
5: 67,159,825 (GRCm39) |
K418E |
probably damaging |
Het |
Lrrc37 |
T |
A |
11: 103,511,726 (GRCm39) |
T81S |
unknown |
Het |
Med17 |
C |
T |
9: 15,173,735 (GRCm39) |
|
probably null |
Het |
Met |
A |
T |
6: 17,571,799 (GRCm39) |
I1373F |
probably benign |
Het |
Naip6 |
T |
A |
13: 100,436,894 (GRCm39) |
Q543L |
possibly damaging |
Het |
Nat9 |
T |
C |
11: 115,075,902 (GRCm39) |
T40A |
probably damaging |
Het |
Or52k2 |
C |
A |
7: 102,254,207 (GRCm39) |
F215L |
probably benign |
Het |
Pde4a |
T |
C |
9: 21,117,534 (GRCm39) |
F599L |
probably benign |
Het |
Pga5 |
T |
C |
19: 10,649,173 (GRCm39) |
Y249C |
probably damaging |
Het |
Plekha8 |
A |
T |
6: 54,607,539 (GRCm39) |
K382M |
probably damaging |
Het |
Plekhd1 |
A |
T |
12: 80,753,149 (GRCm39) |
E119V |
probably damaging |
Het |
Pnp |
A |
T |
14: 51,185,356 (GRCm39) |
H20L |
probably benign |
Het |
Polq |
A |
T |
16: 36,837,559 (GRCm39) |
|
probably null |
Het |
Psma3 |
T |
G |
12: 71,035,250 (GRCm39) |
I177R |
probably damaging |
Het |
Ptpn3 |
A |
G |
4: 57,240,784 (GRCm39) |
|
probably null |
Het |
Ptprt |
A |
T |
2: 161,400,806 (GRCm39) |
L1077Q |
probably damaging |
Het |
Rbm47 |
A |
T |
5: 66,184,573 (GRCm39) |
M10K |
possibly damaging |
Het |
Rere |
A |
G |
4: 150,703,653 (GRCm39) |
D186G |
probably damaging |
Het |
Rpl24 |
T |
C |
16: 55,787,453 (GRCm39) |
S38P |
probably damaging |
Het |
Slco1a1 |
A |
T |
6: 141,885,787 (GRCm39) |
F79L |
possibly damaging |
Het |
Sorl1 |
T |
A |
9: 41,903,041 (GRCm39) |
D1551V |
probably benign |
Het |
Sos1 |
C |
A |
17: 80,741,548 (GRCm39) |
M412I |
probably benign |
Het |
Spast |
G |
A |
17: 74,666,293 (GRCm39) |
V209I |
probably benign |
Het |
Spindoc |
G |
T |
19: 7,335,769 (GRCm39) |
Q340K |
possibly damaging |
Het |
Tlr6 |
T |
C |
5: 65,111,185 (GRCm39) |
Y574C |
probably damaging |
Het |
Tnrc6a |
A |
G |
7: 122,791,346 (GRCm39) |
N1748S |
possibly damaging |
Het |
Trbv13-2 |
A |
T |
6: 41,098,474 (GRCm39) |
K16N |
probably benign |
Het |
Triobp |
C |
T |
15: 78,878,326 (GRCm39) |
H1750Y |
possibly damaging |
Het |
Ubc |
C |
T |
5: 125,465,095 (GRCm39) |
M77I |
probably damaging |
Het |
Usp24 |
A |
G |
4: 106,225,933 (GRCm39) |
D659G |
possibly damaging |
Het |
Vmn2r88 |
T |
A |
14: 51,656,253 (GRCm39) |
C821S |
probably damaging |
Het |
Whamm |
T |
A |
7: 81,224,295 (GRCm39) |
V197D |
probably damaging |
Het |
Zfp777 |
A |
G |
6: 48,006,101 (GRCm39) |
F431S |
probably damaging |
Het |
|
Other mutations in Ogdh |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01109:Ogdh
|
APN |
11 |
6,298,790 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01503:Ogdh
|
APN |
11 |
6,305,069 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01684:Ogdh
|
APN |
11 |
6,292,546 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02141:Ogdh
|
APN |
11 |
6,305,015 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02313:Ogdh
|
APN |
11 |
6,305,400 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL02818:Ogdh
|
APN |
11 |
6,298,270 (GRCm39) |
missense |
probably benign |
|
N/A - 535:Ogdh
|
UTSW |
11 |
6,274,911 (GRCm39) |
missense |
possibly damaging |
0.60 |
PIT4498001:Ogdh
|
UTSW |
11 |
6,290,504 (GRCm39) |
missense |
probably benign |
0.09 |
R0328:Ogdh
|
UTSW |
11 |
6,297,216 (GRCm39) |
missense |
probably benign |
0.01 |
R0505:Ogdh
|
UTSW |
11 |
6,289,936 (GRCm39) |
splice site |
probably benign |
|
R0627:Ogdh
|
UTSW |
11 |
6,297,216 (GRCm39) |
missense |
possibly damaging |
0.78 |
R1119:Ogdh
|
UTSW |
11 |
6,290,544 (GRCm39) |
missense |
probably damaging |
1.00 |
R1480:Ogdh
|
UTSW |
11 |
6,297,827 (GRCm39) |
critical splice acceptor site |
probably null |
|
R1591:Ogdh
|
UTSW |
11 |
6,299,384 (GRCm39) |
missense |
probably damaging |
1.00 |
R1804:Ogdh
|
UTSW |
11 |
6,288,565 (GRCm39) |
missense |
probably damaging |
1.00 |
R1873:Ogdh
|
UTSW |
11 |
6,290,438 (GRCm39) |
splice site |
probably benign |
|
R1959:Ogdh
|
UTSW |
11 |
6,296,638 (GRCm39) |
missense |
possibly damaging |
0.49 |
R2004:Ogdh
|
UTSW |
11 |
6,284,626 (GRCm39) |
missense |
possibly damaging |
0.90 |
R2080:Ogdh
|
UTSW |
11 |
6,299,393 (GRCm39) |
missense |
probably benign |
0.00 |
R2384:Ogdh
|
UTSW |
11 |
6,292,526 (GRCm39) |
missense |
probably damaging |
1.00 |
R2656:Ogdh
|
UTSW |
11 |
6,298,678 (GRCm39) |
missense |
probably benign |
|
R2883:Ogdh
|
UTSW |
11 |
6,284,545 (GRCm39) |
missense |
probably damaging |
1.00 |
R3405:Ogdh
|
UTSW |
11 |
6,299,462 (GRCm39) |
missense |
probably damaging |
1.00 |
R3838:Ogdh
|
UTSW |
11 |
6,288,627 (GRCm39) |
nonsense |
probably null |
|
R3933:Ogdh
|
UTSW |
11 |
6,292,601 (GRCm39) |
missense |
possibly damaging |
0.72 |
R3939:Ogdh
|
UTSW |
11 |
6,300,655 (GRCm39) |
nonsense |
probably null |
|
R4296:Ogdh
|
UTSW |
11 |
6,299,374 (GRCm39) |
missense |
probably damaging |
0.97 |
R4393:Ogdh
|
UTSW |
11 |
6,266,772 (GRCm39) |
missense |
probably damaging |
1.00 |
R4427:Ogdh
|
UTSW |
11 |
6,305,421 (GRCm39) |
missense |
probably benign |
0.01 |
R4667:Ogdh
|
UTSW |
11 |
6,290,600 (GRCm39) |
missense |
probably benign |
0.20 |
R4669:Ogdh
|
UTSW |
11 |
6,290,600 (GRCm39) |
missense |
probably benign |
0.20 |
R4728:Ogdh
|
UTSW |
11 |
6,292,549 (GRCm39) |
missense |
probably damaging |
1.00 |
R4737:Ogdh
|
UTSW |
11 |
6,247,044 (GRCm39) |
missense |
probably benign |
|
R4785:Ogdh
|
UTSW |
11 |
6,299,875 (GRCm39) |
missense |
probably damaging |
1.00 |
R4796:Ogdh
|
UTSW |
11 |
6,290,570 (GRCm39) |
missense |
probably benign |
0.01 |
R5333:Ogdh
|
UTSW |
11 |
6,302,126 (GRCm39) |
missense |
probably damaging |
1.00 |
R5592:Ogdh
|
UTSW |
11 |
6,266,763 (GRCm39) |
splice site |
probably null |
|
R6318:Ogdh
|
UTSW |
11 |
6,299,390 (GRCm39) |
missense |
probably damaging |
0.99 |
R6875:Ogdh
|
UTSW |
11 |
6,290,477 (GRCm39) |
missense |
probably benign |
0.12 |
R6988:Ogdh
|
UTSW |
11 |
6,263,806 (GRCm39) |
nonsense |
probably null |
|
R7406:Ogdh
|
UTSW |
11 |
6,298,351 (GRCm39) |
missense |
probably benign |
0.00 |
R7724:Ogdh
|
UTSW |
11 |
6,274,887 (GRCm39) |
missense |
probably benign |
|
R7763:Ogdh
|
UTSW |
11 |
6,288,558 (GRCm39) |
missense |
probably benign |
|
R7909:Ogdh
|
UTSW |
11 |
6,263,965 (GRCm39) |
missense |
possibly damaging |
0.55 |
R8207:Ogdh
|
UTSW |
11 |
6,299,329 (GRCm39) |
missense |
probably benign |
0.38 |
R8401:Ogdh
|
UTSW |
11 |
6,247,174 (GRCm39) |
nonsense |
probably null |
|
R8448:Ogdh
|
UTSW |
11 |
6,292,619 (GRCm39) |
missense |
probably damaging |
0.98 |
R8770:Ogdh
|
UTSW |
11 |
6,305,336 (GRCm39) |
missense |
probably damaging |
1.00 |
R8796:Ogdh
|
UTSW |
11 |
6,297,129 (GRCm39) |
missense |
possibly damaging |
0.75 |
R9132:Ogdh
|
UTSW |
11 |
6,290,488 (GRCm39) |
missense |
probably benign |
0.01 |
R9328:Ogdh
|
UTSW |
11 |
6,297,838 (GRCm39) |
missense |
probably benign |
0.30 |
R9479:Ogdh
|
UTSW |
11 |
6,297,854 (GRCm39) |
missense |
possibly damaging |
0.89 |
R9696:Ogdh
|
UTSW |
11 |
6,289,209 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1088:Ogdh
|
UTSW |
11 |
6,305,427 (GRCm39) |
missense |
probably benign |
|
Z1177:Ogdh
|
UTSW |
11 |
6,266,982 (GRCm39) |
missense |
probably benign |
0.07 |
Z1177:Ogdh
|
UTSW |
11 |
6,247,051 (GRCm39) |
missense |
probably benign |
|
|
Predicted Primers |
PCR Primer
(F):5'- ACGTAGAAACTCTTCTCAGCCTC -3'
(R):5'- ACCTAAAACTGTGCCTCTAGACAG -3'
Sequencing Primer
(F):5'- AGCCTCTTGTTTTCAGACTTAACAG -3'
(R):5'- GTTCTGCATGCTCACCAGAAGAG -3'
|
Posted On |
2020-09-02 |